Ask about this productRelated genes to: PITPNB antibody
- Gene:
- PITPNB NIH gene
- Name:
- phosphatidylinositol transfer protein beta
- Previous symbol:
- -
- Synonyms:
- VIB1B
- Chromosome:
- 22q12.1
- Locus Type:
- gene with protein product
- Date approved:
- 1999-10-29
- Date modifiied:
- 2015-11-20
Related products to: PITPNB antibody
Related articles to: PITPNB antibody
- Predicting neoadjuvant chemotherapy response in breast cancer remains critical for optimizing treatment strategies, yet robust predictive biomarkers are lacking. This study implemented an ensemble machine learning approach to identify a gene expression signature predicting pathological complete response (pCR) versus residual disease (RD) using bulk RNA-sequencing data from GSE163882 (138 RD, 80 pCR). We employed TMM normalization with differential expression analysis (250 genes, FDR < 0.05, |log2FC| ≥ 1), ensemble feature selection across five classifiers (Random Forest, Gradient Boosting, SVM, k-NN, and Neural Network) with 10-fold repeated cross-validation, and stacked ensemble development. Consensus selection identified a 17-gene signature consistently ranked across algorithms. The stacked ensemble achieved 0.97 AUC post-testing on hold-out test data. External validation on the independent GSE240671 cohort (37 pCR, 25 RD) following ComBat batch correction achieved ROC AUC of 0.78 and PR AUC of 0.85 with isotonic calibration, demonstrating balanced accuracy of 0.71 and 0.86 sensitivity for pCR detection. Pathway enrichment revealed associations with cell cycle regulation (E2F3, MKI67), DNA repair (BRCA2), and transcriptional control (MED1), with six priority genes (MED1, BRCA2, E2F3, PITPNB, H1-1, and FARP2) showing established breast cancer relevance. This externally validated 17-gene signature provides a biologically grounded tool for NAC response prediction in precision oncology. - Source: PubMed
Publication date: 2026/01/16
Lamprou SteliosGeorgiou StylianaStylianopoulos TriantafyllosVoutouri Chrysovalantis - Moyamoya disease (MMD) is a chronic, progressive occlusive cerebrovascular disease. It causes recurrent cerebrovascular stroke due to vascular closure and proliferation. An unclear pathophysiological mechanism is the most significant obstacle in the diagnosis and treatment of MMD. - Source: PubMed
Publication date: 2025/07/28
Zhou ZhenyuNiu HongchuanXu ShaoqiZhang JunzeLiu YutongLei ChengxuHe ShihaoZhao Yuanli - The Holstein Friesian (HF) cattle breed is the most dominant breed in commercial dairy farming worldwide and managed in more than 150 countries. These countries span diverse agro-climatic zones, ranging from tropical to cold regions. The introduction of HF animals in these regions occurred at different moments in the past which are poorly recorded and continued through importation of live animal and frozen semen. We hypothesize that the HF cattle populations in these regions underwent early forms of adaptation to these specific local environments. However, the detection of genetic variation associated with this adaptation remains poorly documented. - Source: PubMed
Publication date: 2025/07/01
Gao JunxinGonzalez-Prendes RaynerLiu YingKantanen JuhaGinja CatarinaGhanem NasserKugonza Donald RugiraMakgahlela MahlakoBovenhuis HenkGroenen Martien A MCrooijmans Richard P M A - Previous studies have indicated a significantly higher prevalence of breast cancer (BC) among female patients with meningioma compared to the general female population. Therefore, this study aimed to assess the causal relationship between BC and meningioma at the genetic level. Genetic instrumental variables (IVs) for BC were identified from the Breast Cancer Association Consortium (BCAC), the Discovery Biology and Risk of Inherited Variants in Breast Cancer Consortium (DRIVE), the Collaborative Oncological Gene-environment Study (iCOGS), and 11 other BC genome-wide association studies (GWAS). Meningioma GWAS data were obtained from the FinnGen consortium and were further divided into intracranial and spinal meningioma groups for analysis. The primary analysis employed the inverse-variance weighted (IVW) method, supported by sensitivity analysis to address pleiotropy and enhance robustness. Next, linkage disequilibrium score regression (LDSC) was used to assess the genetic correlation between BC and meningioma. Finally, we applied the Functional Mapping and Annotation (FUMA) platform to conduct an in-depth analysis of the GWAS data. After rigorous screening and Mendelian randomization (MR) tests, genetically predicted overall BC (OR: 1.17, P = 0.0045) and ER(estrogen receptors) + BC (OR: 1.21, P = 0.0006) showed a potential causal association with intracranial meningioma. No causal relationships were found between intracranial meningioma and three BC subtypes. No bidirectional causal relationships were found between spinal meningioma and any BC subtype. The LDSC results suggested a modest positive genetic correlation between overall BC (rg: 0.152, SE: 0.077, P = 0.048), ER + BC (rg: 0.181, SE: 0.086, P = 0.035), and intracranial meningioma. FUMA analysis identified PITPNB, TTC28, and CHEK2 as shared risk genes between overall BC, ER + BC, and intracranial meningioma. These findings suggest that BC, especially ER + BC, may be a risk factor for intracranial meningioma. ER-related signaling pathways and the regulation of DNA damage may play a critical role in the pathogenesis of both diseases. - Source: PubMed
Publication date: 2025/02/04
Ding LuChen BoZhou ZhouMei ZhaojunCao KanLu XinyuChen Wei - The Golgi stress response is an important cytoprotective system that enhances Golgi function in response to cellular demand, while cells damaged by prolonged Golgi stress undergo cell death. OSW-1, a natural compound with anticancer activity, potently inhibits OSBP that transports cholesterol and phosphatidylinositol-4-phosphate (PI4P) at contact sites between the endoplasmic reticulum and the Golgi apparatus. Previously, we reported that OSW-1 induces the Golgi stress response, resulting in Golgi stress-induced transcription and cell death. However, the underlying molecular mechanism has been unknown. To reveal the mechanism of a novel pathway of the Golgi stress response regulating transcriptional induction and cell death (the PI4P pathway), we performed a genome-wide KO screen and found that transcriptional induction as well as cell death induced by OSW-1 was repressed by the loss of regulators of PI4P synthesis, such as PITPNB and PI4KB. Our data indicate that OSW-1 induces Golgi stress-dependent transcriptional induction and cell death through dysregulation of the PI4P metabolism in the Golgi. - Source: PubMed
Publication date: 2024/12/13
Sasaki KanaeToide MarikaAdachi TakuyaMorishita FumiWatanabe YutoSakurai Hajime TajimaWakabayashi SadaoKusumi SatoshiYamaji ToshiyukiSakurai KaoriKoga DaisukeHanada KentaroYohda MasafumiYoshida Hiderou